Catalog

Phosphoserine aminotransferase deficiency

No MMS code

Link to WHO Definition

Phosphoserine aminotransferase deficiency – http://id.who.int/icd/entity/1210469497

Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterised clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.